Related Experiment Video
Updated: Feb 18, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Emptying the stores: lysosomal diseases and therapeutic strategies
1Department of Pharmacology, University of Oxford, Oxford OX1 3QT, UK.
Abstract:
Lysosomal storage disorders (LSDs) - designated as 'orphan' diseases - are inborn errors of metabolism caused by defects in genes that encode proteins involved in various aspects of lysosomal homeostasis. For many years, LSDs were viewed as unattractive targets for the development of therapies owing to their low prevalence. However, the development and success of the first commercial biologic therapy for an LSD - enzyme replacement therapy for type 1 Gaucher disease - coupled with regulatory incentives rapidly catalysed commercial interest in therapeutically targeting LSDs. Despite ongoing challenges, various therapeutic strategies for LSDs now exist, with many agents approved, undergoing clinical trials or in preclinical development.
Related Concept Videos
Lysosomal Hydrolases
Lysosomes
Delivery Pathways to the Lysosome
Endocytosis
In endocytosis, the cell membrane takes up macromolecules and particles from the surrounding medium. Clathrin-mediated...
Microorganisms in Medicine and Therapeutics
Pharmacogenomics: Identification of New Drug Targets
Targeted Cancer Therapies
There are several types of targeted therapies against...

